ClinVar Miner

Variants studied for Senior-Loken syndrome

Included ClinVar conditions (17):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign total
61 11 55 3 14 143

Gene and significance breakdown #

Total genes and gene combinations: 10
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
CEP164 8 2 7 2 6 25
SDCCAG8 8 3 11 0 3 25
CEP290 11 3 10 0 0 24
WDR19 9 2 10 1 2 23
NPHP4 4 1 12 0 0 17
IQCB1 12 0 1 0 3 16
TRAF3IP1 6 0 0 0 0 6
NPHP1 1 0 4 0 0 5
AKT3, CEP170, LINC01347, LOC110120698, MIR4677, PLD5, SDCCAG8 1 0 0 0 0 1
MALL, MTLN, NPHP1 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 21
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 7 4 22 2 9 44
Fulgent Genetics,Fulgent Genetics 9 1 28 0 0 38
OMIM 34 0 0 0 0 34
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals 6 0 0 0 0 6
Mendelics 1 0 0 0 3 4
Genetic Services Laboratory, University of Chicago 3 0 0 0 0 3
Undiagnosed Diseases Network,NIH 3 0 0 0 0 3
Baylor Genetics 2 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 1 0 0 2
Illumina Clinical Services Laboratory,Illumina 1 0 1 0 0 2
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 1 0 0 2
Human Genetics - Radboudumc,Radboudumc 2 0 0 0 0 2
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 0 2 2
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 1 1 0 2
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 1 0 0 2
Molecular Diagnostics Laboratory, M Health: University of Minnesota 1 1 0 0 0 2
Molecular Diagnostics Laboratory,Seoul National University Hospital 1 0 0 0 0 1
Laboratory of Molecular Oncology,N.N. Petrov Institute of Oncology 0 0 1 0 0 1
Knight Diagnostic Laboratories,Oregon Health and Sciences University 0 1 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 0 1 0 0 1

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